Traits

Traits linked to CP

ceruloplasmin

The Human Phenotype Ontology links 46 traits to CP, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Abnormality of the nervous system	Svært ofte (80–99 %)
Ataxia	Ofte (30–79 %)
Chorea	Ofte (30–79 %)
Cognitive impairment	Ofte (30–79 %)
Difficulty articulating speech	Ofte (30–79 %)
Dystonia	Ofte (30–79 %)
Inability to coordinate movements when walking	Ofte (30–79 %)
Involuntary movements	Ofte (30–79 %)
Limb ataxia	Ofte (30–79 %)
Abnormal corpus striatum morphology	Noen ganger (5–29 %)
Abnormal craniofacial muscle tone	Noen ganger (5–29 %)
Abnormal dentate nucleus morphology	Noen ganger (5–29 %)
Abnormal thalamic MRI signal intensity	Noen ganger (5–29 %)
Akinesia	Noen ganger (5–29 %)
Iron accumulation in brain	Noen ganger (5–29 %)
Lack of feeling, emotion, interest	Noen ganger (5–29 %)
Memory impairment	Noen ganger (5–29 %)
Parkinsonism	Noen ganger (5–29 %)
Tremor	Noen ganger (5–29 %)
Abnormality of extrapyramidal motor function	Ikke registrert
Dementia	Ikke registrert
Explosive speech	Ikke registrert

Laboratory abnormality

Trait	Hvor ofte den forekommer
Abnormal circulating enzyme concentration or activity	Svært ofte (80–99 %)
Aceruloplasminemia	Svært ofte (80–99 %)
Elevated serum ferritin	Svært ofte (80–99 %)
Copper deficiency	Ofte (30–79 %)
Decreased circulating iron concentration	Ofte (30–79 %)
Decreased serum ceruloplasmin	Ofte (30–79 %)
Diabetes mellitus	Ofte (30–79 %)
Increased iron concentration in liver	Ofte (30–79 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Abnormal retinal pigmentation	Ofte (30–79 %)
Macular degeneration	Ofte (30–79 %)
Retina degeneration	Ofte (30–79 %)
Involuntary, rapid, rhythmic eye movements	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Hypochromic microcytic anemia	Svært ofte (80–99 %)
Refractory anemia	Svært ofte (80–99 %)
Low number of red blood cells or hemoglobin	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Eyelid spasm	Noen ganger (5–29 %)
Facial grimacing	Noen ganger (5–29 %)
Wry neck	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Abnormally shaped pancreas	Noen ganger (5–29 %)
Hepatic fibrosis	Ikke registrert
Scar tissue replaces healthy tissue in the liver	Ikke registrert

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Rigidity	Noen ganger (5–29 %)
Cogwheel rigidity	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Cardiac failure	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CP and how often each is seen. Find out more at hpo.jax.org.

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